ID   IISHDOi004-A
AC   CVCL_VN42
SY   RPAB16-FiPS4F3
DR   hPSCreg; IISHDOi004-A
DR   Wikidata; Q94315429
RX   PubMed=30096711;
WW   Provider; BNLC; -; https://www.isciii.es/documents/20119/880364/Caracteristicas+-+Documento+Dep%C3%B3sito+-+RPAB16-FiPS4F3-v2.pdf
CC   Part of: Spanish Stem Cell Bank (Banco Nacional de Lineas Celulares) collection.
CC   From: Instituto de Investigacion Sanitaria Hospital 12 de Octubre; Madrid; Spain.
CC   Population: Caucasian; Spanish.
CC   Sequence variation: Mutation; HGNC; HGNC:12601; USH2A; Simple; p.Cys759Phe (c.2276G>T); ClinVar=VCV000002356; Zygosity=Homozygous (PubMed=30096711).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C126328; Usher syndrome type 2
DI   ORDO; Orphanet_231178; Usher syndrome type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   47Y
CA   Induced pluripotent stem cell
DT   Created: 07-09-18; Last updated: 10-04-25; Version: 13
//
RX   PubMed=30096711; DOI=10.1016/j.scr.2018.08.002;
RA   Zurita-Diaz, Francisco
RA   Ortuno-Costela, Maria Carmen
RA   Moreno-Izquierdo, Ana
RA   Galbis, Liliana
RA   Millan, Jose Maria
RA   Ayuso, Carmen
RA   Garesse, Rafael
RA   Gallardo, Maria Esther
RT   "Establishment of a human iPSC line, IISHDOi004-A, from a patient with
RT   Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in
RT   the USH2A gene.";
RL   Stem Cell Res. 31:152-156(2018).
//